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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 17-41758750-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=41758750&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "JUP",
"hgnc_id": 6207,
"hgvs_c": "c.1618C>A",
"hgvs_p": "p.Arg540Ser",
"inheritance_mode": "AR,AD",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_002230.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.9307,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.08,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8695086240768433,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 745,
"aa_ref": "R",
"aa_start": 540,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3505,
"cdna_start": 1750,
"cds_end": null,
"cds_length": 2238,
"cds_start": 1618,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_002230.4",
"gene_hgnc_id": 6207,
"gene_symbol": "JUP",
"hgvs_c": "c.1618C>A",
"hgvs_p": "p.Arg540Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000393931.8",
"protein_coding": true,
"protein_id": "NP_002221.1",
"strand": false,
"transcript": "NM_002230.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 745,
"aa_ref": "R",
"aa_start": 540,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3505,
"cdna_start": 1750,
"cds_end": null,
"cds_length": 2238,
"cds_start": 1618,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000393931.8",
"gene_hgnc_id": 6207,
"gene_symbol": "JUP",
"hgvs_c": "c.1618C>A",
"hgvs_p": "p.Arg540Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002230.4",
"protein_coding": true,
"protein_id": "ENSP00000377508.3",
"strand": false,
"transcript": "ENST00000393931.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 745,
"aa_ref": "R",
"aa_start": 540,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3200,
"cdna_start": 1737,
"cds_end": null,
"cds_length": 2238,
"cds_start": 1618,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000310706.9",
"gene_hgnc_id": 6207,
"gene_symbol": "JUP",
"hgvs_c": "c.1618C>A",
"hgvs_p": "p.Arg540Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000311113.5",
"strand": false,
"transcript": "ENST00000310706.9",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 745,
"aa_ref": "R",
"aa_start": 540,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3527,
"cdna_start": 1772,
"cds_end": null,
"cds_length": 2238,
"cds_start": 1618,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001352773.2",
"gene_hgnc_id": 6207,
"gene_symbol": "JUP",
"hgvs_c": "c.1618C>A",
"hgvs_p": "p.Arg540Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001339702.1",
"strand": false,
"transcript": "NM_001352773.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 745,
"aa_ref": "R",
"aa_start": 540,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3205,
"cdna_start": 1747,
"cds_end": null,
"cds_length": 2238,
"cds_start": 1618,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001352774.2",
"gene_hgnc_id": 6207,
"gene_symbol": "JUP",
"hgvs_c": "c.1618C>A",
"hgvs_p": "p.Arg540Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001339703.1",
"strand": false,
"transcript": "NM_001352774.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 745,
"aa_ref": "R",
"aa_start": 540,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3227,
"cdna_start": 1769,
"cds_end": null,
"cds_length": 2238,
"cds_start": 1618,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001352775.2",
"gene_hgnc_id": 6207,
"gene_symbol": "JUP",
"hgvs_c": "c.1618C>A",
"hgvs_p": "p.Arg540Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001339704.1",
"strand": false,
"transcript": "NM_001352775.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 745,
"aa_ref": "R",
"aa_start": 540,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3317,
"cdna_start": 1859,
"cds_end": null,
"cds_length": 2238,
"cds_start": 1618,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001352776.2",
"gene_hgnc_id": 6207,
"gene_symbol": "JUP",
"hgvs_c": "c.1618C>A",
"hgvs_p": "p.Arg540Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001339705.1",
"strand": false,
"transcript": "NM_001352776.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 745,
"aa_ref": "R",
"aa_start": 540,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3158,
"cdna_start": 1700,
"cds_end": null,
"cds_length": 2238,
"cds_start": 1618,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001352777.2",
"gene_hgnc_id": 6207,
"gene_symbol": "JUP",
"hgvs_c": "c.1618C>A",
"hgvs_p": "p.Arg540Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001339706.1",
"strand": false,
"transcript": "NM_001352777.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 745,
"aa_ref": "R",
"aa_start": 540,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3208,
"cdna_start": 1750,
"cds_end": null,
"cds_length": 2238,
"cds_start": 1618,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_021991.4",
"gene_hgnc_id": 6207,
"gene_symbol": "JUP",
"hgvs_c": "c.1618C>A",
"hgvs_p": "p.Arg540Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_068831.1",
"strand": false,
"transcript": "NM_021991.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 745,
"aa_ref": "R",
"aa_start": 540,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3298,
"cdna_start": 1835,
"cds_end": null,
"cds_length": 2238,
"cds_start": 1618,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000393930.5",
"gene_hgnc_id": 6207,
"gene_symbol": "JUP",
"hgvs_c": "c.1618C>A",
"hgvs_p": "p.Arg540Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377507.1",
"strand": false,
"transcript": "ENST00000393930.5",
"transcript_support_level": 5
},
{
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"aa_length": 745,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4170,
"cdna_start": 1758,
"cds_end": null,
"cds_length": 2238,
"cds_start": 1618,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000885261.1",
"gene_hgnc_id": 6207,
"gene_symbol": "JUP",
"hgvs_c": "c.1618C>A",
"hgvs_p": "p.Arg540Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555320.1",
"strand": false,
"transcript": "ENST00000885261.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3602,
"cdna_start": 1846,
"cds_end": null,
"cds_length": 2238,
"cds_start": 1618,
"consequences": [
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],
"exon_count": 14,
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"feature": "ENST00000885262.1",
"gene_hgnc_id": 6207,
"gene_symbol": "JUP",
"hgvs_c": "c.1618C>A",
"hgvs_p": "p.Arg540Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555321.1",
"strand": false,
"transcript": "ENST00000885262.1",
"transcript_support_level": null
},
{
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"cds_end": null,
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"consequences": [
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],
"exon_count": 14,
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"feature": "ENST00000885263.1",
"gene_hgnc_id": 6207,
"gene_symbol": "JUP",
"hgvs_c": "c.1618C>A",
"hgvs_p": "p.Arg540Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555322.1",
"strand": false,
"transcript": "ENST00000885263.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3535,
"cdna_start": 1780,
"cds_end": null,
"cds_length": 2238,
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"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000885264.1",
"gene_hgnc_id": 6207,
"gene_symbol": "JUP",
"hgvs_c": "c.1618C>A",
"hgvs_p": "p.Arg540Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555323.1",
"strand": false,
"transcript": "ENST00000885264.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": 2001,
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"consequences": [
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],
"exon_count": 15,
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"exon_rank_end": null,
"feature": "ENST00000885265.1",
"gene_hgnc_id": 6207,
"gene_symbol": "JUP",
"hgvs_c": "c.1618C>A",
"hgvs_p": "p.Arg540Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555324.1",
"strand": false,
"transcript": "ENST00000885265.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3601,
"cdna_start": 1846,
"cds_end": null,
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"consequences": [
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],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000885266.1",
"gene_hgnc_id": 6207,
"gene_symbol": "JUP",
"hgvs_c": "c.1618C>A",
"hgvs_p": "p.Arg540Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555325.1",
"strand": false,
"transcript": "ENST00000885266.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 1859,
"cds_end": null,
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"consequences": [
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],
"exon_count": 15,
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"feature": "ENST00000885268.1",
"gene_hgnc_id": 6207,
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"protein_coding": true,
"protein_id": "ENSP00000555327.1",
"strand": false,
"transcript": "ENST00000885268.1",
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},
{
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],
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"feature": "ENST00000885269.1",
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"hgvs_c": "c.1618C>A",
"hgvs_p": "p.Arg540Ser",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000555328.1",
"strand": false,
"transcript": "ENST00000885269.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": 1892,
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"cds_start": 1618,
"consequences": [
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],
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"feature": "ENST00000885270.1",
"gene_hgnc_id": 6207,
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"hgvs_c": "c.1618C>A",
"hgvs_p": "p.Arg540Ser",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000555329.1",
"strand": false,
"transcript": "ENST00000885270.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
"aa_start": 540,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3616,
"cdna_start": 1863,
"cds_end": null,
"cds_length": 2238,
"cds_start": 1618,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000885271.1",
"gene_hgnc_id": 6207,
"gene_symbol": "JUP",
"hgvs_c": "c.1618C>A",
"hgvs_p": "p.Arg540Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555330.1",
"strand": false,
"transcript": "ENST00000885271.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 745,
"aa_ref": "R",
"aa_start": 540,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3513,
"cdna_start": 1762,
"cds_end": null,
"cds_length": 2238,
"cds_start": 1618,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000885272.1",
"gene_hgnc_id": 6207,
"gene_symbol": "JUP",
"hgvs_c": "c.1618C>A",
"hgvs_p": "p.Arg540Ser",
"intron_rank": null,
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"mane_plus": null,
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